Varaico: Literature-Extracted Genetic Variants

SCN2A

1,166 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one ...

Pfam Domains

Ion_transaa 128–436UCSCIon transport protein

Na_trans_cytoplaa 558–709UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 758–994UCSCIon transport protein

Na_trans_assocaa 997–1203UCSCSodium ion transport-associated

Ion_transaa 1207–1484UCSCIon transport protein

Ion_transaa 1530–1787UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 2

HGNC Previous Symbols

SCN2A1; SCN2A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040142.2

p.A1329V

c.3986C>T

Surrounding Variants

3 papers

NM_001040142.2

p.A1329D

c.3986C>A

1 paper

NM_001040142.2

p.A1329S

c.3985G>T

33 papers

NM_001040142.2

p.L1330F

c.3988C>T

1 paper

NM_001040142.2

p.N1328S

c.3983A>G

1 paper

NM_001040142.2

p.L1331V

c.3991T>G

1 paper

NM_001040142.2

p.L1331F

c.3993A>C

1 paper

NM_001040142.2

p.L1331F

c.3993A>T

1 paper

NM_001040142.2

p.G1332fs

c.3994_3995fs

1 paper

NM_001040142.2

p.G1332_P1335Fs

c.3994_4003delinsCCAFs

1 paper

NM_001040142.2

p.V1326V

c.3978T>C

6 papers

NM_001040142.2

p.V1326D

c.3977T>A

5 papers

NM_001040142.2

p.V1326L

c.3976G>C